Rare Disease Library

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

IL10-related early-onset IBD · IL10-related early-onset inflammatory bowel disease

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Autoimmune enteropathy type 1 · IPEX

Immune hydrops fetalis

IHF · Immune HF

Immune thrombocytopenia

ITP · Immune thrombocytopenic purpura

Immune-mediated acquired neuromuscular junction disease

Immune-mediated cerebellar ataxia

IMCA · Autoimmune cerebellitis

Immune-mediated necrotizing myopathy

Autoimmune necrotizing myositis · Necrotizing autoimmune myositis

Immune-mediated scleritis

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

Immuno-osseous dysplasia

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to an early component of complement deficiency · Immunodeficiency due to C1, C4, or C2 component complement deficiency

Immunodeficiency due to a complement cascade component deficiency

Immunodeficiency due to a complement cascade protein anomaly

Immunodeficiency due to a complement regulatory deficiency

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

Immunodeficiency predominantly affecting antibody production

Immunodeficiency syndrome with autoimmunity

Immunodeficiency with factor H anomaly

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells

Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells

Immunodeficiency-associated lymphoproliferative disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Immunoglobulin A vasculitis

Anaphylactoid purpura · Henoch-Schönlein purpura

Immunoglobulin heavy chain deficiency

Immunoglobulin-mediated membranoproliferative glomerulonephritis

Ig-mediated MPGN · Ig-mediated membranoproliferative glomerulonephritis

Immunotactoid glomerulopathy

Immunotactoid glomerulonephritis

Immunotactoid or fibrillary glomerulopathy

Immunotactoid or fibrillary glomerulonephritis

Immunotherapy induced hypophysitis

Imperforate oropharynx-costovertebral anomalies syndrome

Seghers syndrome

Incessant infant ventricular tachycardia

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

Inclusion body myositis

IBM · Sporadic inclusion body myositis

Inclusion myopathy

Incomplete septal cirrhosis

Incomplete septal fibrosis

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

Indeterminate cell histiocytosis

Indeterminate dendritic cell tumor · Indeterminate dendritic cell neoplasm

Indolent B-cell non-Hodgkin lymphoma

Indolent B-cell NHL

Indolent primary cutaneous B-cell lymphoma

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Indolent systemic mastocytosis